A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10188517



Internal ID4482240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173335416..173338895hg38UCSC Ensembl
Innerchr1:173335433..173338878hg38UCSC Ensembl
Outerchr1:173335399..173338912hg38UCSC Ensembl
chr1:173304555..173308034hg19UCSC Ensembl
Innerchr1:173304572..173308017hg19UCSC Ensembl
Outerchr1:173304538..173308051hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383480
hg193480
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587941
Supporting Variants
SamplesHG03985
Known GenesLOC100506023
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10188517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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