A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2670827

Internal ID9590246
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2691073..2691662hg38UCSC Ensembl
chr7:2730707..2731296hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6496421, essv5534091, essv6391791, essv5940639, essv6086971, essv6484109, essv5706826, essv5790725, essv6056398, essv5848722, essv5507176, essv6044155, essv5544580, essv6532245, essv6313314, essv6053424, essv5880356, essv6481052, essv6550438, essv6190874, essv5793139, essv6181000, essv6381154, essv6111471, essv5555296, essv5477093, essv6434981, essv5851667, essv6266197, essv6266527, essv5959046, essv6528112, essv6214973, essv5585215, essv6233262, essv5659160, essv6329610, essv5416980, essv6260159, essv5880619, essv5749256, essv6027311, essv6038120, essv6266031, essv6298300, essv5660360, essv6235957, essv6107360, essv5655326, essv6041479, essv5490710, essv6562449, essv5413193, essv5479535, essv6553839, essv6084156, essv5924211, essv6317205, essv6589290, essv5726157, essv5491094, essv6088986, essv6099820
SamplesHG01357, NA19445, HG01440, NA19114, HG01342, NA19401, NA19469, NA19435, NA19359, NA19334, NA20808, NA19331, NA19449, NA18489, NA19379, HG01188, NA19257, NA19701, NA19355, NA18505, NA19472, NA18873, NA19147, NA19428, NA19383, NA18508, NA19390, HG00638, NA19471, NA19429, NA19440, NA19908, NA18916, HG00637, NA19457, NA19360, NA19377, NA19380, NA19172, NA19372, NA19374, NA20760, NA19102, NA19704, NA18487, HG00740, NA18910, NA19382, NA19318, NA19391, NA19394, NA12413, NA19719, NA19818, NA19446, HG01390, NA19470, NA18853, HG01374, NA19473, NA19456, NA18519, NA19439
Known GenesAMZ1
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2670827
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer