A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750602



Internal ID9812359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16549149..16681624hg38UCSC Ensembl
Outerchr1:16875644..17008119hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38132476
hg19132476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744419, esv2744452
Supporting Variants
SamplesSSM057
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)essv6750602
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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