A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9846667



Internal ID2071291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7292550..7314290hg38UCSC Ensembl
Innerchr1:7292605..7314235hg38UCSC Ensembl
Outerchr1:7292495..7314345hg38UCSC Ensembl
chr1:7352610..7374350hg19UCSC Ensembl
Innerchr1:7352665..7374295hg19UCSC Ensembl
Outerchr1:7352555..7374405hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3821741
hg1921741
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585122
Supporting Variants
SamplesHG01883
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9846667
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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