A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714729



Internal ID9949013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91169304..91169490hg38UCSC Ensembl
Outerchr1:91634861..91635047hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906167, essv6829072, essv6950627, essv6844465, essv6821261, essv6785067, essv6707314, essv6813223, essv6725919, essv6750659, essv6776998, essv6847130, essv6898663, essv6843944, essv6675269, essv6868770, essv6968002, essv6744997, essv6714307, essv6807435, essv6749209
SamplesSSM100, SSM008, SSM075, SSM046, SSM011, SSM079, SSM041, SSM057, SSM028, SSM090, SSM069, SSM032, SSM067, SSM014, SSM086, SSM085, SSM081, SSM077, SSM055, SSM025, SSM043
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)esv2714729
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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