A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671893



Internal ID9937998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36176815..36179221hg38UCSC Ensembl
Outerchr1:36176244..36179591hg38UCSC Ensembl
Innerchr1:36642416..36644822hg19UCSC Ensembl
Outerchr1:36641845..36645192hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5837065, essv5944310, essv6245935, essv5754311, essv6212065, essv6177326, essv6427785, essv6165854, essv6595342, essv6528885, essv5678952, essv6400849, essv5820758, essv5445447, essv5903415, essv6097393, essv6171483, essv6377448, essv6292338, essv6179769, essv5623943, essv5540818, essv5447731, essv6112858, essv5603209, essv5737432, essv6242812, essv6503207, essv6301688, essv5840062, essv5982968, essv6569692, essv5854583, essv6299673, essv6373903, essv5862091, essv6197918, essv6349561, essv6514618, essv6495444, essv6560571, essv5869747, essv6065772, essv6445168, essv6574024, essv5513392, essv6579824, essv6573135, essv5583768, essv6219392, essv5439387, essv6409415, essv5794498, essv5559461, essv5519188, essv5818353, essv5451555, essv6313363, essv6216999, essv5517244, essv6336427, essv5744866, essv6507159, essv6234580, essv5880373, essv6415713, essv6167096, essv6260584, essv5421059, essv5847899, essv6193650, essv5461890, essv5569748, essv5728334, essv5778471, essv6344427, essv5721467, essv5519286, essv6527825, essv5573873, essv6520312, essv6037419, essv5735849, essv6524145, essv6278151, essv5652723, essv5735601, essv6312804, essv5454187, essv6089350, essv5941614, essv5965937, essv6372194, essv6284846, essv6538969, essv6509004, essv5634105, essv6370786, essv5751048, essv5446521, essv5536351, essv6135494, essv6025567, essv6024492, essv6234241, essv6017608, essv5770614, essv6033000, essv5478382, essv5790606, essv5657068, essv5528673, essv5828358, essv5676486, essv5407770, essv5603326, essv6411070, essv5622759, essv6084186, essv6242982, essv5487447, essv6135841
SamplesHG00593, HG00626, HG00403, HG00114, HG00650, HG00542, HG00442, HG00143, HG00536, HG00231, HG00142, HG00249, HG00671, HG00559, HG00524, HG00100, HG00257, HG00699, HG00449, HG00261, HG00693, HG00663, HG00138, HG00589, HG00251, HG00501, HG00122, HG00702, HG00689, HG00448, HG00247, HG00537, HG00243, HG00158, HG00512, HG00139, HG00683, HG00148, HG00106, HG00236, HG00156, HG00232, HG00422, HG00705, HG00427, HG00160, HG00530, HG00419, HG00253, HG00464, HG00108, HG00260, HG00543, HG00137, HG00154, HG00149, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00263, HG00619, HG00239, HG00692, HG00250, HG00690, HG00404, HG00531, HG00684, HG00613, HG00525, HG00140, HG01334, HG00146, HG00704, HG00463, HG00141, HG00246, HG00126, HG00611, HG00476, HG00254, HG00625, HG00565, HG00580, HG00136, HG00473, HG00237, HG00256, HG00662, HG00418, HG00620, HG00125, HG00707, HG00672, HG00111, HG00513, HG00578, HG00478, HG00259, HG00421, HG00656, HG00698, HG00252, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesMAP7D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671893
Frequency
Sample Size1151
Observed Gain0
Observed Loss122
Observed Complex0
Frequencyn/a


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