A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605287



Internal ID6992310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64656948..64661970hg38UCSC Ensembl
Innerchr5:64656951..64661968hg38UCSC Ensembl
Outerchr5:64656946..64661973hg38UCSC Ensembl
chr5:63952775..63957797hg19UCSC Ensembl
Innerchr5:63952778..63957795hg19UCSC Ensembl
Outerchr5:63952773..63957800hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg385023
hg195023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11934619
SamplesHG03716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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