A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612461



Internal ID6652675
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12692783, essv12692784
SamplesNA19399, HG02309
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612461
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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