A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761095



Internal ID10168267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71552962..71553588hg38UCSC Ensembl
Outerchr13:72127094..72127720hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747603
Supporting Variants
SamplesSSM061
Known GenesDACH1
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)essv6761095
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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