A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12938491



Internal ID3821203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118437615..118493541hg38UCSC Ensembl
Innerchr7:118437615..118493541hg38UCSC Ensembl
Outerchr7:118437115..118494041hg38UCSC Ensembl
chr7:118077669..118133595hg19UCSC Ensembl
Innerchr7:118077669..118133595hg19UCSC Ensembl
Outerchr7:118077169..118134095hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3855927
hg1955927
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614736
Supporting Variants
SamplesHG03460
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12938491
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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