A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12983107



Internal ID6783445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140402189..140403685hg38UCSC Ensembl
Innerchr7:140402189..140403685hg38UCSC Ensembl
Outerchr7:140402061..140404016hg38UCSC Ensembl
chr7:140101989..140103485hg19UCSC Ensembl
Innerchr7:140101989..140103485hg19UCSC Ensembl
Outerchr7:140101861..140103816hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381497
hg191497
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615231
Supporting Variants
SamplesNA20882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12983107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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