A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9915300



Internal ID6540593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39095883..39096464hg38UCSC Ensembl
Innerchr1:39095886..39096462hg38UCSC Ensembl
Outerchr1:39095881..39096467hg38UCSC Ensembl
chr1:39561555..39562136hg19UCSC Ensembl
Innerchr1:39561558..39562134hg19UCSC Ensembl
Outerchr1:39561553..39562139hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585783
Supporting Variants
SamplesHG02536
Known GenesMACF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9915300
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