A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642966



Internal ID7029735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69482285..69484365hg38UCSC Ensembl
Innerchr18:69482291..69484359hg38UCSC Ensembl
Outerchr18:69482279..69484371hg38UCSC Ensembl
chr18:67149521..67151601hg19UCSC Ensembl
Innerchr18:67149527..67151595hg19UCSC Ensembl
Outerchr18:67149515..67151607hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg382081
hg192081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15927402, essv15927392, essv15927385, essv15927382, essv15927388, essv15927395, essv15927399, essv15927393, essv15927398, essv15927394, essv15927396, essv15927397, essv15927391, essv15927384, essv15927380, essv15927400, essv15927383, essv15927386, essv15927381, essv15927387, essv15927401, essv15927389, essv15927390, essv15927379
SamplesNA18621, HG02836, HG03455, NA19098, NA18916, NA06984, HG01771, NA19462, HG03291, HG02511, NA20760, HG01630, HG02555, HG01708, NA18523, NA19440, HG03419, NA19117, NA20528, HG03401, HG02425, HG01786, HG01061, NA19153
Known GenesDOK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642966
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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