A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075877



Internal ID2077693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138631052..138641967hg38UCSC Ensembl
Innerchr5:138631074..138641946hg38UCSC Ensembl
Outerchr5:138631031..138641989hg38UCSC Ensembl
chr5:137966741..137977656hg19UCSC Ensembl
Innerchr5:137966763..137977635hg19UCSC Ensembl
Outerchr5:137966720..137977678hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810916
hg1910916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606927
Supporting Variants
SamplesHG02255
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075877
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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