A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720618



Internal ID10304254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:190628692..190629116hg38UCSC Ensembl
Outerchr1:190597822..190598246hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781022, essv6836317, essv6729757, essv6699750, essv6917576, essv6843999, essv6829136, essv6906246, essv6797596, essv6902666, essv6813287, essv6722128, essv6961772, essv6946622, essv6801736, essv6868828, essv6968081, essv6840101, essv6853447, essv6921877, essv6692919, essv6954968, essv6719876, essv6929205, essv6886089, essv6941945
SamplesSSM083, SSM027, SSM024, SSM045, SSM087, SSM039, SSM013, SSM073, SSM023, SSM028, SSM084, SSM090, SSM047, SSM018, SSM096, SSM026, SSM017, SSM014, SSM085, SSM068, SSM081, SSM072, SSM020, SSM007, SSM037, SSM077
Known GenesLOC440704
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)esv2720618
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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