A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734291



Internal ID10317927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38541069..38541610hg38UCSC Ensembl
Outerchr7:38580669..38581210hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6778448, essv6935017, essv6975226, essv6964133
SamplesSSM027, SSM021, SSM029, SSM067
Known GenesAMPH
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)esv2734291
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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