A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12752177



Internal ID5508114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:41430157..41430796hg38UCSC Ensembl
Innerchr7:41430173..41430781hg38UCSC Ensembl
Outerchr7:41430142..41430812hg38UCSC Ensembl
chr7:41469755..41470394hg19UCSC Ensembl
Innerchr7:41469771..41470379hg19UCSC Ensembl
Outerchr7:41469740..41470410hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612946
Supporting Variants
SamplesNA18988
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12752177
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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