A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12419410



Internal ID2421226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73223489..73233695hg38UCSC Ensembl
chr6:73933212..73943418hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3810207
hg1910207
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609501
Supporting Variants
SamplesHG00698
Known GenesKHDC1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12419410
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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