A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672462



Internal ID9591881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56592955..56597961hg38UCSC Ensembl
Outerchr17:56592584..56598331hg38UCSC Ensembl
Innerchr17:54670316..54675322hg19UCSC Ensembl
Outerchr17:54669945..54675692hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg385748
hg195748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6142560, essv5769639, essv6356623, essv6525201, essv6347497, essv6380429, essv6573145, essv5507350, essv6187518, essv6350009, essv6443833, essv6074889, essv5957669, essv5886898, essv5653110, essv5843701, essv6011709, essv6587005, essv6367713, essv5957487, essv6494820, essv6119663, essv5493487, essv6397654, essv5972866, essv6004309, essv6355376, essv6157562, essv6240982, essv6249130, essv6136925, essv5687499, essv5956089, essv5894304, essv5495915, essv5783419, essv6505204, essv6221022, essv5698251, essv6221630, essv5872682, essv5669818, essv5637956, essv5820682, essv5795621, essv6372247, essv6466966, essv6071500, essv6327161, essv6340367, essv5796010, essv5863256, essv5399484, essv5541037, essv5534534, essv6393899, essv5520003, essv6268062, essv6039866, essv6331570, essv5762604, essv6257205, essv5921584, essv6457552, essv5428103, essv6389168, essv6577601, essv5566331, essv5465025, essv6075813, essv5550590, essv5990127, essv5853139, essv6506614, essv6340953, essv6097210, essv5494580, essv6581755, essv6205001, essv6010407, essv6148703, essv5401278, essv5508538, essv5836270, essv6168774
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00580, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesNOG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672462
Frequency
Sample Size1151
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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