A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6917191



Internal ID9678300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54755168..54770004hg38UCSC Ensembl
Outerchr19:55266620..55281456hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3814837
hg1914837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718925, esv2718924, esv2718920, esv2718922, esv2718872, esv2718911, esv2718923, esv2718921, esv2718913
Supporting Variants
SamplesSSM016
Known GenesKIR2DL1
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)essv6917191
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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