A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587245



Internal ID6627552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113699035..113723249hg38UCSC Ensembl
Innerchr1:113699075..113723209hg38UCSC Ensembl
Outerchr1:113698995..113723289hg38UCSC Ensembl
chr1:114241657..114265871hg19UCSC Ensembl
Innerchr1:114241697..114265831hg19UCSC Ensembl
Outerchr1:114241617..114265911hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3824215
hg1924215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10079251, essv10079250
SamplesHG02603, NA18523
Known GenesPHTF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587245
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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