A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585840



Internal ID6626155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42182979..42187180hg38UCSC Ensembl
Innerchr1:42182981..42187178hg38UCSC Ensembl
Outerchr1:42182977..42187182hg38UCSC Ensembl
chr1:42648650..42652851hg19UCSC Ensembl
Innerchr1:42648652..42652849hg19UCSC Ensembl
Outerchr1:42648648..42652853hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384202
hg194202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9920601, essv9920605, essv9920599, essv9920602, essv9920604, essv9920597, essv9920603, essv9920600, essv9920598, essv9920606, essv9920607
SamplesHG01052, HG02508, NA19197, HG03442, HG03100, NA19213, NA18502, HG02561, HG03259, HG02574, HG03460
Known GenesFOXJ3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585840
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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