Variant Details

Variant: essv4931373

Internal ID

7170319

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:152385294..152385646	hg38	UCSC Ensembl
Outer	chr7:152385122..152385818	hg38	UCSC Ensembl
Inner	chr7:152082379..152082731	hg19	UCSC Ensembl
Outer	chr7:152082207..152082903	hg19	UCSC Ensembl
Inner	chr7:151713312..151713664	hg18	UCSC Ensembl
Outer	chr7:151713140..151713836	hg18	UCSC Ensembl

Cytoband

7q36.1

Allele length

Assembly	Allele length
hg38	697
hg19	697
hg18	697

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2405364

Supporting Variants

Samples

NA18507

Known Genes

KMT2C

Method

Sequencing

Analysis

Hierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.

Platform

Not specified

Comments

Reference

Bentley_et_al_2008

Pubmed ID

18987734

Accession Number(s)

essv4931373

Frequency

Sample Size	1
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a