A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10763199



Internal ID765015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173921104..173932730hg38UCSC Ensembl
chr2:174785832..174797458hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811627
hg1911627
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593393
Supporting Variants
SamplesHG01121
Known GenesSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10763199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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