A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596505



Internal ID6636776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69751839..69752693hg38UCSC Ensembl
Innerchr3:69751896..69752636hg38UCSC Ensembl
Outerchr3:69751782..69752750hg38UCSC Ensembl
chr3:69800990..69801844hg19UCSC Ensembl
Innerchr3:69801047..69801787hg19UCSC Ensembl
Outerchr3:69800933..69801901hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11036881
SamplesHG01861
Known GenesMITF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596505
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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