A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6932580



Internal ID10038308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7852242..7852618hg38UCSC Ensembl
Outerchr17:7755560..7755936hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715604
Supporting Variants
SamplesSSM020
Known GenesKDM6B
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)essv6932580
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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