A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748000



Internal ID10328970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110160132..110160463hg38UCSC Ensembl
Outerchr13:110812479..110812810hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966146, essv6873837, essv6857553, essv6940558, essv6819970, essv6959626, essv6806545, essv6678029, essv6882485, essv6787975, essv6862644, essv6888157
SamplesSSM027, SSM087, SSM074, SSM088, SSM069, SSM096, SSM026, SSM094, SSM032, SSM078, SSM022, SSM091
Known GenesCOL4A1
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)esv2748000
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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