A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747408



Internal ID10328378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40817248..40817652hg38UCSC Ensembl
Outerchr1:41282920..41283324hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937708, essv6686168, essv6902565
SamplesSSM013, SSM035, SSM022
Known GenesKCNQ4
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)esv2747408
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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