A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12813476



Internal ID3574328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65037410..65039546hg38UCSC Ensembl
Innerchr7:65037415..65039542hg38UCSC Ensembl
Outerchr7:65037406..65039551hg38UCSC Ensembl
chr7:64497788..64499924hg19UCSC Ensembl
Innerchr7:64497793..64499920hg19UCSC Ensembl
Outerchr7:64497784..64499929hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382137
hg192137
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613434
Supporting Variants
SamplesHG03162
Known GenesCCT6P3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12813476
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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