A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12847929



Internal ID5182119
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613722
Supporting Variants
SamplesNA18606
Known GenesPMS2P3, POM121C, SPDYE5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12847929
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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