A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612982



Internal ID6999881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43040843..43047800hg38UCSC Ensembl
Innerchr7:43040861..43047782hg38UCSC Ensembl
Outerchr7:43040825..43047818hg38UCSC Ensembl
chr7:43080442..43087399hg19UCSC Ensembl
Innerchr7:43080460..43087381hg19UCSC Ensembl
Outerchr7:43080424..43087417hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386958
hg196958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756033, essv12756032
SamplesNA20339, HG02427
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612982
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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