A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606500



Internal ID6993436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119917231..120019830hg38UCSC Ensembl
Innerchr5:119917238..120019824hg38UCSC Ensembl
Outerchr5:119917225..120019837hg38UCSC Ensembl
chr5:119252926..119355525hg19UCSC Ensembl
Innerchr5:119252933..119355519hg19UCSC Ensembl
Outerchr5:119252920..119355532hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38102600
hg19102600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12035874
SamplesHG02611
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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