A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720437



Internal ID10304073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:100445283..100445702hg38UCSC Ensembl
Outerchr2:101061745..101062164hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933683, essv6910417, essv6847572, essv6669529, essv6693165, essv6942204, essv6739123, essv6919784, essv6675547, essv6906453, essv6968339, essv6929463
SamplesSSM023, SSM028, SSM021, SSM032, SSM003, SSM031, SSM014, SSM086, SSM020, SSM015, SSM037, SSM052
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)esv2720437
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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