A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12890523



Internal ID6002287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92365527..92367046hg38UCSC Ensembl
Innerchr7:92365529..92367045hg38UCSC Ensembl
Outerchr7:92365526..92367048hg38UCSC Ensembl
chr7:91994841..91996360hg19UCSC Ensembl
Innerchr7:91994843..91996359hg19UCSC Ensembl
Outerchr7:91994840..91996362hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg381520
hg191520
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614138
Supporting Variants
SamplesNA19401
Known GenesANKIB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12890523
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