A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867188



Internal ID9917264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51961002..51961060hg38UCSC Ensembl
Outerchr12:52354786..52354844hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745889, esv2745890
Supporting Variants
SamplesSSM089
Known GenesACVR1B
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)essv6867188
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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