A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9741384



Internal ID18715630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149878843..149879001hg38UCSC Ensembl
Outerchr7:149878836..149879007hg38UCSC Ensembl
Innerchr7:149575932..149576090hg19UCSC Ensembl
Outerchr7:149575925..149576096hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3542637
Supporting Variants
Samples
Known GenesATP6V0E2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9741384
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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