A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591329



Internal ID6631613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76644538..76760877hg38UCSC Ensembl
Innerchr2:76644542..76760874hg38UCSC Ensembl
Outerchr2:76644535..76760881hg38UCSC Ensembl
chr2:76871664..76988003hg19UCSC Ensembl
Innerchr2:76871668..76988000hg19UCSC Ensembl
Outerchr2:76871661..76988007hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38116340
hg19116340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv707e214
Supporting Variantsessv10550022
SamplesHG01840
Known GenesLRRTM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591329
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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