A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6677769



Internal ID9745179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1256426..1257190hg38UCSC Ensembl
Outerchr12:1365592..1366356hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745389
Supporting Variants
SamplesSSM032
Known GenesERC1
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)essv6677769
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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