A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780873



Internal ID9842711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16540618..16675296hg38UCSC Ensembl
Outerchr1:16867113..17001791hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38134679
hg19134679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744419, esv2744452
Supporting Variants
SamplesSSM068
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
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)essv6780873
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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