A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588489



Internal ID6975906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196987156..197007930hg38UCSC Ensembl
Innerchr1:196987656..197007430hg38UCSC Ensembl
Outerchr1:196986156..197008930hg38UCSC Ensembl
chr1:196956286..196977060hg19UCSC Ensembl
Innerchr1:196956786..196976560hg19UCSC Ensembl
Outerchr1:196955286..196978060hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3820775
hg1920775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv72e214
Supporting Variantsessv10253772, essv10253773, essv10253776, essv10253775, essv10253774
SamplesHG02870, NA19443, NA19200, NA19908, HG02449
Known GenesCFHR5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588489
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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