A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718794



Internal ID9953086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52637407..52734228hg38UCSC Ensembl
Outerchr19:53140660..53237481hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3896822
hg1996822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937379, essv6863660, essv6909825, essv6816356, essv6915007, essv6948052, essv6905878
SamplesSSM013, SSM088, SSM002, SSM021, SSM003, SSM014, SSM077
Known GenesZNF611, ZNF83
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)esv2718794
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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