A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613745



Internal ID6653953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75942470..75942961hg38UCSC Ensembl
Innerchr7:75942471..75942960hg38UCSC Ensembl
Outerchr7:75942469..75942962hg38UCSC Ensembl
chr7:75571788..75572279hg19UCSC Ensembl
Innerchr7:75571789..75572278hg19UCSC Ensembl
Outerchr7:75571787..75572280hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848241, essv12848243, essv12848233, essv12848257, essv12848267, essv12848253, essv12848249, essv12848235, essv12848254, essv12848270, essv12848271, essv12848256, essv12848255, essv12848266, essv12848272, essv12848247, essv12848259, essv12848239, essv12848237, essv12848258, essv12848268, essv12848245, essv12848240, essv12848242, essv12848252, essv12848261, essv12848236, essv12848234, essv12848251, essv12848262, essv12848238, essv12848246, essv12848263, essv12848250, essv12848248, essv12848269, essv12848273, essv12848260, essv12848244, essv12848264, essv12848265
SamplesHG02890, NA19137, NA20887, NA19436, NA20862, NA20785, NA20506, HG03478, NA19310, HG02334, NA20296, HG02979, NA19184, HG02977, NA20861, HG03378, NA19467, HG03457, NA19914, NA20854, NA20356, NA19390, NA19652, HG03965, HG03539, NA21144, NA19360, NA19395, HG02537, NA19347, NA20797, HG03073, HG02624, HG03237, HG02628, NA19118, NA19095, HG03517, HG02820, HG02774, HG03625
Known GenesPOR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613745
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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