A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613633



Internal ID7000529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71596147..71597164hg38UCSC Ensembl
Innerchr7:71596180..71597132hg38UCSC Ensembl
Outerchr7:71596115..71597197hg38UCSC Ensembl
chr7:71061132..71062149hg19UCSC Ensembl
Innerchr7:71061165..71062117hg19UCSC Ensembl
Outerchr7:71061100..71062182hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12829722, essv12829715, essv12829720, essv12829721, essv12829724, essv12829718, essv12829730, essv12829725, essv12829735, essv12829716, essv12829723, essv12829717, essv12829726, essv12829719, essv12829733, essv12829727, essv12829732, essv12829729, essv12829714, essv12829734, essv12829728, essv12829731
SamplesHG01985, HG02798, NA18486, NA18878, HG03464, NA18923, NA19131, NA19457, NA19207, HG01308, HG03169, HG02820, HG02570, HG01989, HG02594, HG03028, NA19019, HG02721, HG03117, HG02053, HG02676, HG03470
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613633
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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