A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614947



Internal ID7001836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126996337..127043999hg38UCSC Ensembl
Innerchr7:126996373..127043964hg38UCSC Ensembl
Outerchr7:126996302..127044035hg38UCSC Ensembl
chr7:126636391..126684053hg19UCSC Ensembl
Innerchr7:126636427..126684018hg19UCSC Ensembl
Outerchr7:126636356..126684089hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3847663
hg1947663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1329e214
Supporting Variantsessv12958303
SamplesHG03727
Known GenesGRM8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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