A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943298



Internal ID9705169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29802451..29897747hg38UCSC Ensembl
Outerchr6:29770228..29865524hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3895297
hg1995297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731767, esv2731775, esv2731772
Supporting Variants
SamplesSSM023
Known GenesHLA-G, HLA-H
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)essv6943298
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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