A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729562



Internal ID9963877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1201751..1201889hg38UCSC Ensembl
Outerchr10:1247691..1247829hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958613, essv6809093, essv6887709, essv6866660
SamplesSSM089, SSM096, SSM075, SSM026
Known GenesADARB2
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)esv2729562
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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