A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767113



Internal ID10175434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330855..37331379hg38UCSC Ensembl
Outerchr4:37332477..37333001hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727422, esv2727417, esv2727420
Supporting Variants
SamplesSSM064
Known GenesKIAA1239
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)essv6767113
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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