A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685878



Internal ID9752675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:604149..604305hg38UCSC Ensembl
Outerchr19:604149..604305hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717749
Supporting Variants
SamplesSSM034
Known GenesHCN2
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)essv6685878
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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