A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950252



Internal ID9707395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54761641..54822871hg38UCSC Ensembl
Outerchr19:55273093..55334326hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3861231
hg1961234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718924, esv2718913, esv2718922, esv2718911, esv2718872, esv2718920
Supporting Variants
SamplesSSM024
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, LOC100287534
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)essv6950252
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer