A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663750



Internal ID9583169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105045645..105049130hg38UCSC Ensembl
chr2:105662103..105665588hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383486
hg193486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6275499, essv5488834, essv6288649, essv6099781, essv6181379, essv6139329, essv5896964, essv6289660, essv6037730, essv5972512
SamplesNA20808, HG00173, HG01461, NA12044, HG00231, NA20765, HG01066, NA20512, NA19777, HG00271
Known GenesMRPS9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663750
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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