A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749783



Internal ID9984067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:64371891..64372028hg38UCSC Ensembl
Outerchr15:64664090..64664227hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665318, essv6966456, essv6882644, essv6696002, essv6820194, essv6809705, essv6788182, essv6800647, essv6862894
SamplesSSM027, SSM075, SSM088, SSM069, SSM029, SSM094, SSM072, SSM078, SSM037
Known GenesKIAA0101
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)esv2749783
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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