A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587950



Internal ID6975373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173994244..173999017hg38UCSC Ensembl
Innerchr1:173994294..173998963hg38UCSC Ensembl
Outerchr1:173994168..173999093hg38UCSC Ensembl
chr1:173963382..173968155hg19UCSC Ensembl
Innerchr1:173963432..173968101hg19UCSC Ensembl
Outerchr1:173963306..173968231hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg384774
hg194774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10188573, essv10188577, essv10188575, essv10188576, essv10188574
SamplesHG02337, NA18877, HG03040, NA19102, HG02013
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587950
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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