A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674647



Internal ID2062816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7412169..7413542hg38UCSC Ensembl
Innerchr7:7412169..7413542hg38UCSC Ensembl
Outerchr7:7412021..7413790hg38UCSC Ensembl
chr7:7451800..7453173hg19UCSC Ensembl
Innerchr7:7451800..7453173hg19UCSC Ensembl
Outerchr7:7451652..7453421hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612083
Supporting Variants
SamplesHG01880
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674647
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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