A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612540



Internal ID6999441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23222500..23224139hg38UCSC Ensembl
Innerchr7:23222530..23224109hg38UCSC Ensembl
Outerchr7:23222470..23224169hg38UCSC Ensembl
chr7:23262119..23263758hg19UCSC Ensembl
Innerchr7:23262149..23263728hg19UCSC Ensembl
Outerchr7:23262089..23263788hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381640
hg191640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12703856, essv12703851, essv12703855, essv12703857, essv12703854, essv12703848, essv12703860, essv12703861, essv12703849, essv12703853, essv12703858, essv12703859, essv12703852, essv12703850
SamplesHG03548, NA20274, NA18881, HG01064, NA19917, HG02545, HG03073, NA19456, HG03583, HG03563, NA18912, HG02585, NA19625, HG01108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612540
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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