A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953308



Internal ID10057775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128113180..128113819hg38UCSC Ensembl
Outerchr12:128597725..128598364hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746627, esv2746626
Supporting Variants
SamplesSSM025
Known GenesLOC100996679
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)essv6953308
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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