A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615198



Internal ID7002087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138737485..138742122hg38UCSC Ensembl
Innerchr7:138737503..138742104hg38UCSC Ensembl
Outerchr7:138737467..138742140hg38UCSC Ensembl
chr7:138422230..138426867hg19UCSC Ensembl
Innerchr7:138422248..138426849hg19UCSC Ensembl
Outerchr7:138422212..138426885hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg384638
hg194638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12981554
SamplesHG02455
Known GenesATP6V0A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615198
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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