A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694947



Internal ID15049381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72190469..72191967hg38UCSC Ensembl
Innerchr5:72190967..72191469hg38UCSC Ensembl
Outerchr5:72189469..72192967hg38UCSC Ensembl
chr5:71486296..71487794hg19UCSC Ensembl
Innerchr5:71486794..71487296hg19UCSC Ensembl
Outerchr5:71485296..71488794hg19UCSC Ensembl
chr5:71522052..71523550hg18UCSC Ensembl
Innerchr5:71523052..71522550hg18UCSC Ensembl
Outerchr5:71521052..71524550hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401045
Supporting Variants
SamplesNA19239
Known GenesMAP1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694947
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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