A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721675



Internal ID10305311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234898636..234899589hg38UCSC Ensembl
Outerchr2:235807280..235808233hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38954
hg19954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6770003, essv6793782, essv6718604, essv6880832, essv6973247, essv6773880, essv6892742, essv6669743, essv6942351, essv6829438, essv6902971, essv6785514, essv6714699, essv6955565, essv6797962, essv6929587, essv6693303
SamplesSSM071, SSM065, SSM013, SSM023, SSM069, SSM029, SSM026, SSM031, SSM044, SSM066, SSM081, SSM072, SSM020, SSM037, SSM043, SSM098, SSM012
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)esv2721675
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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