A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747208



Internal ID9981492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37611331..37611924hg38UCSC Ensembl
Outerchr1:38076932..38077596hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38594
hg19665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773460, essv6954782, essv6832622, essv6843917, essv6766569, essv6853273, essv6950591, essv6738831, essv6748721, essv6750628, essv6753519, essv6747806, essv6692802, essv6933333, essv6937705, essv6759073, essv6972397, essv6742162, essv6744963, essv6697004, essv6679197, essv6769552, essv6921750, essv6929091, essv6961597, essv6829032, essv6785015
SamplesSSM008, SSM027, SSM064, SSM065, SSM087, SSM038, SSM057, SSM058, SSM021, SSM018, SSM069, SSM061, SSM029, SSM026, SSM033, SSM066, SSM085, SSM081, SSM082, SSM020, SSM053, SSM037, SSM022, SSM055, SSM025, SSM052, SSM056
Known GenesRSPO1
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)esv2747208
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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