A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958642



Internal ID9720463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3106260..3106385hg38UCSC Ensembl
Outerchr10:3148452..3148577hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731162, esv2731173, esv2730995
Supporting Variants
SamplesSSM026
Known GenesPFKP
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)essv6958642
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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