A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630693



Internal ID6670827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107701854..107702446hg38UCSC Ensembl
Innerchr12:107701904..107702396hg38UCSC Ensembl
Outerchr12:107701804..107702496hg38UCSC Ensembl
chr12:108095631..108096223hg19UCSC Ensembl
Innerchr12:108095681..108096173hg19UCSC Ensembl
Outerchr12:108095581..108096273hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14603412
SamplesNA19439
Known GenesPWP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630693
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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