A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866369



Internal ID9916528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71825978..73469084hg38UCSC Ensembl
Outerchr8:72738213..74381319hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381643107
hg191643107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737154
Supporting Variants
SamplesSSM089
Known GenesKCNB2, LOC100130301, LOC100132891, LOC392232, MSC, RDH10, RNU6-83P, RPL7, SBSPON, STAU2, STAU2-AS1, TERF1, TRPA1
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)essv6866369
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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