A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614732



Internal ID7001625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118274785..118317801hg38UCSC Ensembl
Innerchr7:118274785..118317801hg38UCSC Ensembl
Outerchr7:118274285..118318301hg38UCSC Ensembl
chr7:117914839..117957855hg19UCSC Ensembl
Innerchr7:117914839..117957855hg19UCSC Ensembl
Outerchr7:117914339..117958355hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3843017
hg1943017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12938484, essv12938483
SamplesHG03460, HG00237
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614732
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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