A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8816805



Internal ID14764069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61762456..61762456hg38UCSC Ensembl
Innerchr14:61762455..61762457hg38UCSC Ensembl
Outerchr14:61762396..61762506hg38UCSC Ensembl
chr14:62229174..62229174hg19UCSC Ensembl
Innerchr14:62229173..62229175hg19UCSC Ensembl
Outerchr14:62229114..62229224hg19UCSC Ensembl
chr14:61298927..61298927hg18UCSC Ensembl
Innerchr14:61298928..61298926hg18UCSC Ensembl
Outerchr14:61298867..61298977hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3443817
Supporting Variants
SamplesNA19240
Known GenesSNAPC1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8816805
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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