A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679476



Internal ID9648064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:123814204..123816207hg38UCSC Ensembl
Outerchr6:124135349..124137352hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg382004
hg192004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732662
Supporting Variants
SamplesSSM005
Known GenesNKAIN2
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)essv6679476
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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