A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748004



Internal ID10328974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110313464..110313841hg38UCSC Ensembl
Outerchr13:110965811..110966188hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6698913, essv6768662, essv6870880, essv6857555, essv6823850, essv6916313, essv6971048, essv6717010, essv6945180, essv6867721, essv6842650, essv6758371, essv6846114, essv6752724, essv6695781, essv6779652, essv6685278, essv6894846, essv6720896, essv6836342, essv6783772, essv6882488, essv6876833, essv6724691, essv6800430, essv6891461, essv6819971, essv6772275, essv6744178, essv6755739, essv6765893
SamplesSSM059, SSM045, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM094, SSM067, SSM044, SSM085, SSM068, SSM072, SSM078, SSM016, SSM053, SSM037, SSM010, SSM034, SSM043, SSM098, SSM063
Known GenesCOL4A2
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)esv2748004
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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