A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893249



Internal ID18837383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790175..54815284hg38UCSC Ensembl
Outerchr19:54790175..54832151hg38UCSC Ensembl
Innerchr19:55301627..55326739hg19UCSC Ensembl
Outerchr19:55301627..55343606hg19UCSC Ensembl
Innerchr19:59993439..60018551hg18UCSC Ensembl
Outerchr19:59993439..60035418hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3841977
hg1941980
hg1841980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25786187, essv25801355, essv25798936, essv25786576, essv25785649, essv25781331, essv25786708, essv25787081
Samples
Known GenesKIR2DL4, KIR3DL1, LOC100287534
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893249
Frequency
Sample Size3017
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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