A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15094248



Internal ID4082190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90789856..90800822hg38UCSC Ensembl
Innerchr14:90789856..90800822hg38UCSC Ensembl
Outerchr14:90789653..90801039hg38UCSC Ensembl
chr14:91256200..91267166hg19UCSC Ensembl
Innerchr14:91256200..91267166hg19UCSC Ensembl
Outerchr14:91255997..91267383hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3810967
hg1910967
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635318
Supporting Variants
SamplesHG03711
Known GenesTTC7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15094248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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