A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657338



Internal ID9923443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101623426..101623658hg38UCSC Ensembl
chr8:102635654..102635886hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5645208, essv6488265, essv6202875, essv5566838, essv6489917, essv5710842, essv6308111, essv5460518, essv6455066, essv6342495, essv6523980, essv5447825, essv6514546, essv6238134, essv5621877, essv6019650, essv5479327, essv6254856, essv6192938, essv6520393, essv5894205, essv6121554, essv6082473, essv6588834, essv5522012, essv6258316
SamplesNA19397, NA18599, NA19359, NA19374, HG00689, HG00448, NA18558, NA19385, NA18544, HG00557, HG00428, HG00701, HG00708, NA18548, HG00331, HG00525, NA19401, NA18559, HG00620, HG00478, NA18636, NA19116, NA18624, NA18549, NA18577, NA18620
Known GenesGRHL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657338
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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