A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967987



Internal ID10076979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70646696..70646922hg38UCSC Ensembl
Outerchr1:71112379..71112605hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749630, esv2749641
Supporting Variants
SamplesSSM028
Known Genes
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)essv6967987
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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