A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747241



Internal ID9981525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37742539..37742762hg38UCSC Ensembl
Outerchr1:38208211..38208434hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925715, essv6863983, essv6766570, essv6972398, essv6961598, essv6668990, essv6847053, essv6816612
SamplesSSM027, SSM086, SSM078, SSM089, SSM064, SSM031, SSM029, SSM019
Known GenesEPHA10
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)esv2747241
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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