A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12692784



Internal ID2694600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19048260..19095680hg38UCSC Ensembl
Innerchr7:19048286..19095655hg38UCSC Ensembl
Outerchr7:19048235..19095706hg38UCSC Ensembl
chr7:19087883..19135303hg19UCSC Ensembl
Innerchr7:19087909..19135278hg19UCSC Ensembl
Outerchr7:19087858..19135329hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3847421
hg1947421
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612461
Supporting Variants
SamplesNA19399
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12692784
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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