A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747342



Internal ID10328312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45377632..45382048hg38UCSC Ensembl
Outerchr13:45951767..45956183hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg384417
hg194417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv222e201
Supporting Variantsessv6920364, essv6716944, essv6732276, essv6823782, essv6728471, essv6831457, essv6772217, essv6796172, essv6970982, essv6803612, essv6720828, essv6791998, essv6713136, essv6885185, essv6783716, essv6905045, essv6827879, essv6838763, essv6900739, essv6800380, essv6888111, essv6779601, essv6894789, essv6724640, essv6842592, essv6681728, essv6827878, essv6806490, essv6706349, essv6702606, essv6685212
SamplesSSM100, SSM083, SSM071, SSM045, SSM046, SSM079, SSM065, SSM039, SSM013, SSM073, SSM074, SSM042, SSM028, SSM084, SSM047, SSM096, SSM017, SSM067, SSM044, SSM033, SSM068, SSM081, SSM040, SSM072, SSM080, SSM070, SSM095, SSM034, SSM043, SSM098
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)esv2747342
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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