A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642608



Internal ID7029377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56354463..56359335hg38UCSC Ensembl
Innerchr18:56354463..56359335hg38UCSC Ensembl
Outerchr18:56354381..56359470hg38UCSC Ensembl
chr18:54021694..54026566hg19UCSC Ensembl
Innerchr18:54021694..54026566hg19UCSC Ensembl
Outerchr18:54021612..54026701hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg384873
hg194873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15888455, essv15888456, essv15888465, essv15888462, essv15888453, essv15888467, essv15888454, essv15888460, essv15888468, essv15888461, essv15888458, essv15888463, essv15888464, essv15888459, essv15888457, essv15888466
SamplesHG02385, HG02140, NA18567, NA18547, HG01843, HG03910, HG02389, HG00534, NA18557, HG00675, NA18544, HG02075, HG02127, NA18945, HG02188, NA18957
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642608
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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