A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718657



Internal ID10302293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47024865..47025491hg38UCSC Ensembl
Outerchr19:47528122..47528748hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914941, essv6781876, essv6766372, essv6967521, essv6747592, essv6761689, essv6814710, essv6947963, essv6841987
SamplesSSM008, SSM027, SSM009, SSM002, SSM061, SSM003, SSM010, SSM055, SSM063
Known GenesNPAS1
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)esv2718657
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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