A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642144



Internal ID6682225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32066991..32098591hg38UCSC Ensembl
Innerchr18:32067141..32098441hg38UCSC Ensembl
Outerchr18:32066841..32098741hg38UCSC Ensembl
chr18:29646954..29678554hg19UCSC Ensembl
Innerchr18:29647104..29678404hg19UCSC Ensembl
Outerchr18:29646804..29678704hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3831601
hg1931601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15837741, essv15837743, essv15837745, essv15837742, essv15837744
SamplesHG02165, HG00662, HG02384, NA18983, HG01855
Known GenesRNF125, RNF138
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642144
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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