A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747345



Internal ID9981629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45380204..45383972hg38UCSC Ensembl
Outerchr13:45954339..45958107hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg383769
hg193769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882439, essv6691733, essv6716945, essv6685213, essv6775841, essv6787911, essv6827879, essv6831458
SamplesSSM036, SSM069, SSM094, SSM066, SSM081, SSM080, SSM034, SSM043
Known GenesTPT1-AS1
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)esv2747345
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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