A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721997



Internal ID10305633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241457192..241457875hg38UCSC Ensembl
Outerchr2:242396607..242397290hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797988, essv6669784, essv6801982, essv6700164, essv6730088, essv6942380, essv6793814, essv6933834, essv6714728, essv6718625
SamplesSSM071, SSM039, SSM073, SSM023, SSM021, SSM047, SSM031, SSM044, SSM072, SSM043
Known GenesFARP2
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)esv2721997
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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