A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787486



Internal ID9636350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16549153..16681611hg38UCSC Ensembl
Outerchr1:16875648..17008106hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38132459
hg19132459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744419, esv2744452
Supporting Variants
SamplesSSM001
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)essv6787486
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer