A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612229



Internal ID6999130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11836166..11838960hg38UCSC Ensembl
Innerchr7:11836166..11838960hg38UCSC Ensembl
Outerchr7:11835866..11839350hg38UCSC Ensembl
chr7:11875792..11878586hg19UCSC Ensembl
Innerchr7:11875792..11878586hg19UCSC Ensembl
Outerchr7:11875492..11878976hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg382795
hg192795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683194, essv12683198, essv12683209, essv12683180, essv12683184, essv12683201, essv12683205, essv12683187, essv12683200, essv12683207, essv12683183, essv12683190, essv12683202, essv12683192, essv12683185, essv12683177, essv12683176, essv12683196, essv12683186, essv12683178, essv12683203, essv12683191, essv12683181, essv12683195, essv12683182, essv12683206, essv12683189, essv12683193, essv12683204, essv12683197, essv12683199, essv12683179, essv12683208, essv12683188
SamplesNA18616, HG02384, HG04156, NA18969, NA18563, NA18558, HG02130, HG03594, HG00705, NA18986, NA18640, NA18973, NA18638, NA19056, HG02025, HG00701, HG00598, HG04019, HG01029, NA18573, HG00479, HG02086, NA19059, HG03914, HG02049, HG02064, HG00623, HG00473, NA18943, HG02181, HG01861, NA18631, NA18609, HG02406
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612229
Frequency
Sample Size2504
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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