A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10200044



Internal ID201860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179717888..179765571hg38UCSC Ensembl
chr1:179687023..179734706hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3847684
hg1947684
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588058
Supporting Variants
SamplesHG03696
Known GenesFAM163A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10200044
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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