A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587941



Internal ID6975364
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv60e214
Supporting Variantsessv10188517, essv10188518, essv10188516, essv10188519
SamplesHG03629, NA20906, NA20897, HG03985
Known GenesLOC100506023
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587941
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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