A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12937374



Internal ID2782837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117608683..117622933hg38UCSC Ensembl
Innerchr7:117608729..117622888hg38UCSC Ensembl
Outerchr7:117608638..117622979hg38UCSC Ensembl
chr7:117248737..117262987hg19UCSC Ensembl
Innerchr7:117248783..117262942hg19UCSC Ensembl
Outerchr7:117248692..117263033hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3814251
hg1914251
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614717
Supporting Variants
SamplesHG02461
Known GenesCFTR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12937374
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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