A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587269



Internal ID6627576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114628472..114678474hg38UCSC Ensembl
chr1:115171093..115221095hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3850003
hg1950003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10079299
SamplesNA18523
Known GenesAMPD1, DENND2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587269
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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