A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728029



Internal ID9962341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248164354..248165043hg38UCSC Ensembl
Outerchr1:248327656..248328345hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825213, essv6929295, essv6955101, essv6813357, essv6729836, essv6968173, essv6797693, essv6886155, essv6847368, essv6889209, essv6925882, essv6840171, essv6853565
SamplesSSM086, SSM084, SSM072, SSM020, SSM097, SSM077, SSM028, SSM047, SSM087, SSM019, SSM096, SSM026, SSM080
Known Genes
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)esv2728029
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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