A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749917



Internal ID9984201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78970317..78970864hg38UCSC Ensembl
Outerchr15:79262659..79263206hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869586, essv6713371, essv6788197, essv6873995, essv6820218, essv6828133, essv6713370, essv6873996
SamplesSSM011, SSM042, SSM069, SSM078, SSM080, SSM091
Known GenesRASGRF1
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)esv2749917
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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