A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985095



Internal ID3555187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140968819..140973458hg38UCSC Ensembl
Innerchr7:140968819..140973458hg38UCSC Ensembl
Outerchr7:140968782..140973529hg38UCSC Ensembl
chr7:140668619..140673258hg19UCSC Ensembl
Innerchr7:140668619..140673258hg19UCSC Ensembl
Outerchr7:140668582..140673329hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg384640
hg194640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615245
Supporting Variants
SamplesHG03135
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985095
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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