A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12050696



Internal ID4381288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126513543..126526525hg38UCSC Ensembl
Innerchr5:126514043..126526025hg38UCSC Ensembl
Outerchr5:126512543..126527525hg38UCSC Ensembl
chr5:125849235..125862217hg19UCSC Ensembl
Innerchr5:125849735..125861717hg19UCSC Ensembl
Outerchr5:125848235..125863217hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3812983
hg1912983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606681
Supporting Variants
SamplesHG03907
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12050696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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