A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3355149



Internal ID15202130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57041272..57041280hg38UCSC Ensembl
Innerchr14:57041264..57041286hg38UCSC Ensembl
Outerchr14:57041256..57041296hg38UCSC Ensembl
chr14:57507990..57507998hg19UCSC Ensembl
Innerchr14:57507982..57508004hg19UCSC Ensembl
Outerchr14:57507974..57508014hg19UCSC Ensembl
chr14:56577743..56577751hg18UCSC Ensembl
Innerchr14:56577757..56577735hg18UCSC Ensembl
Outerchr14:56577727..56577767hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8966416, essv8966433, essv8966432, essv8966422, essv8966420, essv8966428, essv8966426, essv8966415, essv8966423, essv8966418, essv8966424, essv8966431, essv8966421, essv8966417, essv8966427, essv8966419, essv8966430, essv8966429
SamplesNA18502, NA11830, NA11995, NA18861, NA12750, NA07347, NA12156, NA12489, NA11919, NA11894, NA18856, NA18523, NA18517, NA12763, NA18501, NA19129, NA18522, NA12776
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3355149
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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