A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615271



Internal ID7002160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142247131..142249650hg38UCSC Ensembl
Innerchr7:142247172..142249609hg38UCSC Ensembl
Outerchr7:142247090..142249691hg38UCSC Ensembl
chr7:141946950..141949470hg19UCSC Ensembl
Innerchr7:141946991..141949429hg19UCSC Ensembl
Outerchr7:141946909..141949511hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382520
hg192521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12987091
SamplesNA20845
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615271
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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