A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672680



Internal ID9592099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247067701..247069437hg38UCSC Ensembl
Outerchr1:247067664..247069487hg38UCSC Ensembl
Innerchr1:247231003..247232739hg19UCSC Ensembl
Outerchr1:247230966..247232789hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381824
hg191824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6266113, essv5939907
SamplesNA19457, NA19818
Known GenesZNF670, ZNF670-ZNF695
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672680
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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