A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730987



Internal ID10314623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:161369697..161370014hg38UCSC Ensembl
Outerchr5:160796703..160797020hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715371, essv6798696, essv6860644
SamplesSSM088, SSM072, SSM043
Known GenesGABRB2
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)esv2730987
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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