A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615199



Internal ID7002088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138793218..138823621hg38UCSC Ensembl
Innerchr7:138793368..138823471hg38UCSC Ensembl
Outerchr7:138793068..138823771hg38UCSC Ensembl
chr7:138477963..138508366hg19UCSC Ensembl
Innerchr7:138478113..138508216hg19UCSC Ensembl
Outerchr7:138477813..138508516hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3830404
hg1930404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12981555, essv12981556
SamplesHG02491, HG02684
Known GenesATP6V0A4, TMEM213
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615199
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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