A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635318



Internal ID7022117
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15094250, essv15094248, essv15094244, essv15094245, essv15094247, essv15094249, essv15094246
SamplesNA20890, NA11994, HG01405, HG02793, HG03711, HG00116, HG01082
Known GenesTTC7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635318
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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