A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13003720



Internal ID1648775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148910171..148937869hg38UCSC Ensembl
Innerchr7:148910671..148937369hg38UCSC Ensembl
Outerchr7:148909171..148938869hg38UCSC Ensembl
chr7:148607263..148634961hg19UCSC Ensembl
Innerchr7:148607763..148634461hg19UCSC Ensembl
Outerchr7:148606263..148635961hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3827699
hg1927699
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615420
Supporting Variants
SamplesHG01516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13003720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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