A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673161



Internal ID9592580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:19447927..19451397hg38UCSC Ensembl
OuterchrX:19447770..19451550hg38UCSC Ensembl
InnerchrX:19466045..19469515hg19UCSC Ensembl
OuterchrX:19465888..19469668hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg383781
hg193781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1395e199
Supporting Variantsessv5853071, essv6226395
SamplesHG00337, HG00330
Known GenesMAP3K15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673161
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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