A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9924633



Internal ID6549926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44311308..44312530hg38UCSC Ensembl
Innerchr1:44311312..44312527hg38UCSC Ensembl
Outerchr1:44311305..44312534hg38UCSC Ensembl
chr1:44776980..44778202hg19UCSC Ensembl
Innerchr1:44776984..44778199hg19UCSC Ensembl
Outerchr1:44776977..44778206hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585881
Supporting Variants
SamplesHG02462
Known GenesERI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9924633
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