A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635034



Internal ID7021834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:78692793..78699311hg38UCSC Ensembl
Innerchr14:78692794..78699311hg38UCSC Ensembl
Outerchr14:78692793..78699312hg38UCSC Ensembl
chr14:79159136..79165654hg19UCSC Ensembl
Innerchr14:79159137..79165654hg19UCSC Ensembl
Outerchr14:79159136..79165655hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386519
hg196519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15071522, essv15071536, essv15071543, essv15071529, essv15071527, essv15071541, essv15071538, essv15071545, essv15071540, essv15071554, essv15071549, essv15071518, essv15071525, essv15071552, essv15071533, essv15071532, essv15071551, essv15071521, essv15071531, essv15071519, essv15071535, essv15071550, essv15071544, essv15071524, essv15071528, essv15071553, essv15071542, essv15071530, essv15071547, essv15071548, essv15071520, essv15071537, essv15071546, essv15071539, essv15071534, essv15071526, essv15071517, essv15071523, essv15071516
SamplesNA20588, NA19028, NA11995, HG02702, NA11920, HG03558, HG03455, NA20332, HG00150, HG03168, NA19448, HG02840, HG00120, HG01757, NA19024, HG03691, NA19036, HG00137, HG03132, HG03714, NA20505, HG03760, HG04162, HG03781, HG02757, HG02817, HG03802, NA19375, NA19309, HG02807, HG02721, NA20797, HG01912, HG00123, HG04098, HG00112, HG02013, HG01775, HG02465
Known GenesNRXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635034
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer