A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682857



Internal ID10099976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58241312..58241426hg38UCSC Ensembl
Outerchr1:58706984..58707098hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748774, esv2748785
Supporting Variants
SamplesSSM034
Known GenesDAB1
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)essv6682857
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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