A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12879965



Internal ID2881781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:88235075..88240514hg38UCSC Ensembl
Innerchr7:88235075..88240514hg38UCSC Ensembl
Outerchr7:88234707..88240875hg38UCSC Ensembl
chr7:87864390..87869829hg19UCSC Ensembl
Innerchr7:87864390..87869829hg19UCSC Ensembl
Outerchr7:87864022..87870190hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg385440
hg195440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614048
Supporting Variants
SamplesNA19256
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12879965
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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