A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589500



Internal ID6629789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246961023..246990768hg38UCSC Ensembl
Innerchr1:246961023..246990768hg38UCSC Ensembl
Outerchr1:246960523..246991268hg38UCSC Ensembl
chr1:247124325..247154070hg19UCSC Ensembl
Innerchr1:247124325..247154070hg19UCSC Ensembl
Outerchr1:247123825..247154570hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3829746
hg1929746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373382, essv10373383
SamplesHG03458, NA20863
Known GenesZNF670-ZNF695, ZNF695
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589500
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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