A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673178



Internal ID9743614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51197116..51197172hg38UCSC Ensembl
Outerchr12:51590899..51590955hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745877, esv2745878
Supporting Variants
SamplesSSM031
Known GenesPOU6F1
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)essv6673178
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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