A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6752567



Internal ID9813799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27558247..27558808hg38UCSC Ensembl
Outerchr12:27711180..27711741hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745664, esv2745669
Supporting Variants
SamplesSSM057
Known GenesPPFIBP1
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)essv6752567
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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