A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828762



Internal ID9882682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52821337..52857385hg38UCSC Ensembl
Outerchr19:53324590..53360638hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3836049
hg1936049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718787, esv2718796, esv2718800, esv2718802, esv2718799
Supporting Variants
SamplesSSM080
Known GenesZNF28, ZNF468
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)essv6828762
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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