A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697485



Internal ID10111960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195394908..195395162hg38UCSC Ensembl
Outerchr3:195115637..195115891hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726463
Supporting Variants
SamplesSSM038
Known GenesACAP2
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)essv6697485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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