A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721691



Internal ID9955988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:235564631..235564816hg38UCSC Ensembl
Outerchr2:236473275..236473460hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933806, essv6770004, essv6683240, essv6669745, essv6973251, essv6833022, essv6955569, essv6711042, essv6777397, essv6836634, essv6962330
SamplesSSM065, SSM027, SSM082, SSM042, SSM031, SSM067, SSM083, SSM029, SSM021, SSM034, SSM026
Known GenesAGAP1
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)esv2721691
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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