A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726029



Internal ID10309665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240536325..240537086hg38UCSC Ensembl
Outerchr1:240699625..240700386hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793514, essv6773637, essv6968145, essv6670855, essv6955064, essv6801781, essv6906310, essv6745103, essv6683003
SamplesSSM071, SSM073, SSM028, SSM026, SSM014, SSM066, SSM005, SSM055, SSM034
Known GenesGREM2
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)esv2726029
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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