A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670827



Internal ID9590246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2691073..2691662hg38UCSC Ensembl
chr7:2730707..2731296hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38590
hg19590
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670827
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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