A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931496



Internal ID9988041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102369218..102369453hg38UCSC Ensembl
Outerchr7:102009665..102009900hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734945, esv2734944
Supporting Variants
SamplesSSM003
Known GenesLOC100289561, LOC100630923
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6931496
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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