A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612487



Internal ID6652701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20338988..20339837hg38UCSC Ensembl
Innerchr7:20339038..20339787hg38UCSC Ensembl
Outerchr7:20338938..20339887hg38UCSC Ensembl
chr7:20378611..20379460hg19UCSC Ensembl
Innerchr7:20378661..20379410hg19UCSC Ensembl
Outerchr7:20378561..20379510hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12693221
SamplesHG01771
Known GenesITGB8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612487
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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