A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585258



Internal ID6625578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13459452..13496736hg38UCSC Ensembl
Innerchr1:13459452..13496736hg38UCSC Ensembl
Outerchr1:13458952..13497236hg38UCSC Ensembl
chr1:13785920..13823188hg19UCSC Ensembl
Innerchr1:13785920..13823188hg19UCSC Ensembl
Outerchr1:13785420..13823688hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3837285
hg1937269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9859627
SamplesHG01808
Known GenesLRRC38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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