A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715515



Internal ID9949802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3001177..3001731hg38UCSC Ensembl
Outerchr17:2904471..2905025hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713571, essv6858190, essv6891802, essv6945682, essv6863145, essv6843129, essv6877156, essv6806847, essv6879937, essv6871520, essv6852203, essv6728929, essv6960371, essv6777677, essv6920889, essv6713570, essv6891803
SamplesSSM092, SSM086, SSM084, SSM042, SSM088, SSM097, SSM093, SSM017, SSM011, SSM087, SSM046, SSM023, SSM074, SSM026, SSM008
Known GenesRAP1GAP2
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)esv2715515
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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