A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8937375



Internal ID13574112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120280692..120280713hg38UCSC Ensembl
Innerchr7:120280695..120280710hg38UCSC Ensembl
Outerchr7:120280674..120280731hg38UCSC Ensembl
chr7:119920746..119920767hg19UCSC Ensembl
Innerchr7:119920749..119920764hg19UCSC Ensembl
Outerchr7:119920728..119920785hg19UCSC Ensembl
chr7:119707982..119708003hg18UCSC Ensembl
Innerchr7:119708000..119707985hg18UCSC Ensembl
Outerchr7:119707964..119708021hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326465
Supporting Variants
SamplesNA18523
Known GenesKCND2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8937375
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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