A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10247517



Internal ID4147113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196759747..196839735hg38UCSC Ensembl
Innerchr1:196760247..196839235hg38UCSC Ensembl
Outerchr1:196758747..196840735hg38UCSC Ensembl
chr1:196728877..196808865hg19UCSC Ensembl
Innerchr1:196729377..196808365hg19UCSC Ensembl
Outerchr1:196727877..196809865hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3879989
hg1979989
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588469
Supporting Variants
SamplesHG03754
Known GenesCFHR1, CFHR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10247517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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