A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605213



Internal ID6992239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61335081..61344791hg38UCSC Ensembl
Innerchr5:61335081..61344791hg38UCSC Ensembl
Outerchr5:61334581..61345291hg38UCSC Ensembl
chr5:60630908..60640618hg19UCSC Ensembl
Innerchr5:60630908..60640618hg19UCSC Ensembl
Outerchr5:60630408..60641118hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg389711
hg199711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11925275
SamplesNA20514
Known GenesZSWIM6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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