A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588467



Internal ID6628759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196661872..196664090hg38UCSC Ensembl
Innerchr1:196661872..196664090hg38UCSC Ensembl
Outerchr1:196661746..196664183hg38UCSC Ensembl
chr1:196631002..196633220hg19UCSC Ensembl
Innerchr1:196631002..196633220hg19UCSC Ensembl
Outerchr1:196630876..196633313hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382219
hg192219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10246936
SamplesNA19704
Known GenesCFH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588467
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer