A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6255679



Internal ID8822930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247003094..247003730hg38UCSC Ensembl
chr1:247166396..247167032hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668869
Supporting Variants
SamplesHG00264
Known GenesZNF670-ZNF695, ZNF695
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6255679
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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