A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675494



Internal ID13695420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173228262..173228298hg38UCSC Ensembl
Innerchr4:173228273..173228285hg38UCSC Ensembl
Outerchr4:173228239..173228321hg38UCSC Ensembl
chr4:174149413..174149449hg19UCSC Ensembl
Innerchr4:174149424..174149436hg19UCSC Ensembl
Outerchr4:174149390..174149472hg19UCSC Ensembl
chr4:174385988..174386024hg18UCSC Ensembl
Innerchr4:174386011..174385999hg18UCSC Ensembl
Outerchr4:174385965..174386047hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351993
Supporting Variants
SamplesNA12891
Known GenesGALNT7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675494
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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