A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613234



Internal ID7000132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55129259..55140408hg38UCSC Ensembl
Innerchr7:55129259..55140408hg38UCSC Ensembl
Outerchr7:55128759..55140908hg38UCSC Ensembl
chr7:55196952..55208101hg19UCSC Ensembl
Innerchr7:55196952..55208101hg19UCSC Ensembl
Outerchr7:55196452..55208601hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3811150
hg1911150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12783266
SamplesNA19080
Known GenesEGFR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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