A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676268



Internal ID2909355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128746727..128747965hg38UCSC Ensembl
chr3:128465570..128466808hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6545773, essv5565983, essv5798935, essv5630883, essv5723073, essv5795260, essv6495770, essv5481152, essv6159952, essv6313752, essv6207141, essv6412473, essv5918171, essv5746892, essv5762812
SamplesNA19248, NA19445, NA19311, NA19455, NA19359, NA19920, NA19355, NA19908, NA19247, NA19377, NA19462, NA19446, NA19399, NA19350, NA19468
Known GenesRAB7A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676268
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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