A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587938



Internal ID6975361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173106488..173120011hg38UCSC Ensembl
Innerchr1:173106490..173120009hg38UCSC Ensembl
Outerchr1:173106486..173120013hg38UCSC Ensembl
chr1:173075628..173089150hg19UCSC Ensembl
Innerchr1:173075630..173089148hg19UCSC Ensembl
Outerchr1:173075626..173089152hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3813524
hg1913523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10188508, essv10188506, essv10188507
SamplesNA19394, NA19360, NA19430
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587938
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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