A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718039



Internal ID9952330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5076152..5076545hg38UCSC Ensembl
Outerchr19:5076163..5076556hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721653, essv6835835, essv6839619, essv6928749, essv6871449, essv6941387, essv6784613, essv6843489, essv6967423
SamplesSSM083, SSM027, SSM084, SSM090, SSM019, SSM044, SSM068, SSM082, SSM022
Known GenesKDM4B
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)esv2718039
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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