A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717992



Internal ID9952283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4184927..4185133hg38UCSC Ensembl
Outerchr19:4184924..4185130hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858689, essv6816288, essv6913625, essv6801272, essv6696650
SamplesSSM087, SSM072, SSM015, SSM037, SSM077
Known GenesANKRD24
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)esv2717992
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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