A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694380



Internal ID14697181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2877227..2879525hg38UCSC Ensembl
Innerchr4:2878227..2878525hg38UCSC Ensembl
Outerchr4:2876227..2880525hg38UCSC Ensembl
chr4:2878954..2881252hg19UCSC Ensembl
Innerchr4:2879954..2880252hg19UCSC Ensembl
Outerchr4:2877954..2882252hg19UCSC Ensembl
chr4:2848752..2851050hg18UCSC Ensembl
Innerchr4:2849752..2850050hg18UCSC Ensembl
Outerchr4:2847752..2852050hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3383963
Supporting Variants
SamplesNA19239
Known GenesADD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694380
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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