A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659363



Internal ID9578782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:21506278..21515584hg38UCSC Ensembl
Outerchr20:21505907..21515954hg38UCSC Ensembl
Innerchr20:21486916..21496222hg19UCSC Ensembl
Outerchr20:21486545..21496592hg19UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg3810048
hg1910048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5843950, essv5558708, essv5802964, essv6448207, essv5436473, essv6405802, essv5451326, essv5743436, essv6328480, essv5950279, essv5879285, essv5444215, essv5718998, essv5814531, essv6099398, essv6217648, essv6025192, essv6102380, essv5750507, essv6472585, essv6372825, essv5658421, essv5432467, essv6518951, essv5629976, essv6209063, essv6162227, essv6195019, essv5990087, essv5531459, essv5774270, essv5656692, essv5956214, essv5619125, essv5723394, essv5961355, essv6093524, essv5813941, essv6494575, essv5396847, essv6098287, essv5725468, essv5850833, essv5894022, essv5525537, essv5816444, essv5587343, essv5850197, essv6224922, essv6125467, essv5763565, essv6304798, essv6143447, essv6414068, essv6394709, essv5471843, essv6507065, essv6459045, essv6410544, essv6225228, essv6275590, essv5627236, essv5586311
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00524, HG00699, HG00449, HG00693, HG00663, HG00589, HG00501, HG00689, HG00448, HG00634, HG00537, HG00512, HG00683, HG00534, HG00427, HG00530, HG00419, HG00543, HG00629, HG00443, HG00596, HG00428, HG00653, HG00701, HG00475, HG00556, HG00584, HG00500, HG00619, HG00708, HG00651, HG00690, HG00404, HG00531, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00625, HG00580, HG00473, HG00607, HG00620, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00628, HG00437
Known GenesNKX2-2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659363
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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