A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695769



Internal ID15054880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2878992..2880390hg38UCSC Ensembl
Innerchr7:2879390..2879992hg38UCSC Ensembl
Outerchr7:2877992..2881390hg38UCSC Ensembl
chr7:2918626..2920024hg19UCSC Ensembl
Innerchr7:2919024..2919626hg19UCSC Ensembl
Outerchr7:2917626..2921024hg19UCSC Ensembl
chr7:2885152..2886550hg18UCSC Ensembl
Innerchr7:2886152..2885550hg18UCSC Ensembl
Outerchr7:2884152..2887550hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353717
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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