A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724151



Internal ID9958452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226978567..226978907hg38UCSC Ensembl
Outerchr1:227166268..227166608hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6886123, essv6906286, essv6785175, essv6718326, essv6853503, essv6773621, essv6844030, essv6946660, essv6699791, essv6710751, essv6864177, essv6793489, essv6847310, essv6789341
SamplesSSM086, SSM042, SSM089, SSM071, SSM039, SSM024, SSM085, SSM066, SSM069, SSM087, SSM096, SSM044, SSM014, SSM070
Known GenesADCK3
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)esv2724151
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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