A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673089



Internal ID14685572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88465941..88465998hg38UCSC Ensembl
Innerchr14:88465957..88465982hg38UCSC Ensembl
Outerchr14:88465900..88466039hg38UCSC Ensembl
chr14:88932285..88932342hg19UCSC Ensembl
Innerchr14:88932301..88932326hg19UCSC Ensembl
Outerchr14:88932244..88932383hg19UCSC Ensembl
chr14:88002038..88002095hg18UCSC Ensembl
Innerchr14:88002079..88002054hg18UCSC Ensembl
Outerchr14:88001997..88002136hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38164
hg19164
hg18164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426068
Supporting Variants
SamplesNA19238
Known GenesPTPN21
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673089
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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