A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613722



Internal ID7000618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75482624..75524921hg38UCSC Ensembl
Innerchr7:75482624..75524921hg38UCSC Ensembl
Outerchr7:75482124..75525421hg38UCSC Ensembl
chr7:75111901..75154250hg19UCSC Ensembl
Innerchr7:75111901..75154250hg19UCSC Ensembl
Outerchr7:75111401..75154750hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3842298
hg1942350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12847929, essv12847926, essv12847927, essv12847930, essv12847925, essv12847928
SamplesHG02250, NA18606, HG02082, NA18908, HG02047, NA18532
Known GenesPMS2P3, POM121C, SPDYE5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613722
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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