A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642425



Internal ID7029195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46096718..46097743hg38UCSC Ensembl
Innerchr18:46096718..46097743hg38UCSC Ensembl
Outerchr18:46096316..46098139hg38UCSC Ensembl
chr18:43676684..43677709hg19UCSC Ensembl
Innerchr18:43676684..43677709hg19UCSC Ensembl
Outerchr18:43676282..43678105hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15857803, essv15857808, essv15857783, essv15857790, essv15857799, essv15857806, essv15857782, essv15857796, essv15857791, essv15857784, essv15857785, essv15857804, essv15857788, essv15857797, essv15857798, essv15857805, essv15857807, essv15857795, essv15857787, essv15857786, essv15857800, essv15857801, essv15857794, essv15857802, essv15857793, essv15857792, essv15857789, essv15857809
SamplesNA18530, NA18940, HG02185, HG00458, NA18571, NA18949, NA19075, NA18954, HG00543, HG00629, HG00596, HG02513, NA19086, NA19000, NA19009, HG00704, NA18546, HG03238, HG00611, NA18543, NA19083, HG02371, NA18636, HG00698, NA19063, NA19074, NA18620, NA18997
Known GenesATP5A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642425
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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